A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953178



Internal ID9710972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:757638..765674hg38UCSC Ensembl
Outerchr12:866804..874840hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388037
hg198037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745368
Supporting Variants
SamplesSSM025
Known GenesWNK1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6953178
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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